Validation of a Clinical Screening Grid for Syndromic Schizophrenia (Schizo-CGH-EXM)

• ClinicalTrials.gov Identifier: NCT02746510
• Recruitment Status: Unknown
• First Posted: April 21, 2016
• Last Update Posted: March 16, 2022
• Sponsor: Hôpital le Vinatier
• Collaborator: Hospices Civils de Lyon
• Information provided by (Responsible Party): Hôpital le Vinatier

Study Description

Brief Summary:

Background:

Nowadays, despite a large number of studies about schizophrenia and genetics, clinical red flags for syndromic forms of schizophrenia remain poorly documented.

Condition or disease	Intervention/treatment	Phase
Schizophrenia	Genetic: Array comparative genomic hybridization	Not Applicable

Detailed Description:

Methods: This study aims to validate a short clinical screening grid for syndromic forms of schizophrenia linked to a pathogenic Copy Variation Number (CNV). The investigators plan to include 150 patients with defined (DSM V) schizophrenia and aged 15 years and more. The clinical grid will be prospectively fulfilled for every patients on the basis of his/her medical history and clinical examination. Array comparative genomic hybridization (CGH-a) will be performed on jugal mucosae sample to detect precisely syndromic forms of schizophrenia linked to the presence of a pathogenic Copy Number Variation (CNV).

In subjects with no CNV that may explain the onset of schizophrenia, the investigators would like to complete the investigations with exome trio sequencing. With this type of very clinical approach, the investigators wish to determine which semiological elements should alert the psychiatrists as to the presence of a syndromic form. The objective is to propose at the end of this study a simple and reliable scale, usable in psychiatry consultation, to guide the genetic screening of forms of syndromic schizophrenia.

Study Design

• Study Type: Interventional (Clinical Trial)
• Estimated Enrollment: 150 participants
• Allocation: N/A
• Intervention Model: Single Group Assignment
• Masking: None (Open Label)
• Primary Purpose: Diagnostic
• Official Title: Validation of a Clinical Screening Grid for Syndromic Schizophrenia
• Actual Study Start Date: July 2016
• Estimated Primary Completion Date: February 2023
• Estimated Study Completion Date: December 2023

Arms and Interventions

Arm

Intervention/treatment

Experimental: Array comparative genomic hybridization; The investigators plan to include 150 patients with defined (DSM V) schizophrenia and aged 15 years and more. The clinical grid will be prospectively fulfilled for every patients on the basis of his/her medical history and clinical examination. Array comparative genomic hybridization (CGH-a) will be performed on jugal mucosae sample to detect precisely syndromic forms of schizophrenia linked to the presence of a pathogenic Copy Number Variation (CNV) or a pathogenic sequence variation (exome trio sequencing).

Genetic: Array comparative genomic hybridization; For each of the 150 patients deoxyribose nucleic acid (DNA) exactracted from a jugal mucosae sample will be analysed by the cytogeneticist and a CGH-a will be performed.

Outcome Measures

Primary Outcome Measures :

1. Presence or absence of each criteria from the grid. [ Time Frame: During the inclusion visit (45 minutes) ]

   The following criteria are evaluated:

   Intelectual disability Precocity of the disease (before 15 years) Treatment resistance Confusion Familial history of schizophrenia Visual hallucination Psychomotor regression Pyramidal syndrome Ataxia Dystonia Areflexia Epilepsia Autism spectrum disorder Dysmorphic features ENT or visceral malformation Growth delay

Secondary Outcome Measures :

1. Presence or absence of a pathogenic CNV detected on the CGH-a [ Time Frame: 4 months from samples to results ]
   For each of the 150 patients deoxyribose nucleic acid (DNA) exactracted from a jugal mucosae sample will be analysed by the cytogeneticist and a CGH-a will be performed. The results will be transmited to the principal investigator. The latter will transmit the results to the patients. If necessary a genetic counselling will be provided by a geneticist.
2. Whole exome sequencing [ Time Frame: 6 months ]
   Searching for mosaic genetic variations that may have occurred secondarily to conception in 30 subjects with ARRAY CGH who do not find any chromosomal imbalance that could explain the symptoms

Eligibility Criteria

• Ages Eligible for Study: 15 Years and older (Child, Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Criteria

Inclusion Criteria:

• Patient aged 15 years and more with a schizophrenia defined by the DSM V criterion
• Informed consent signed by the patient or he/she's legal representant

Exclusion Criteria:

• Pregnancy
• Current psychotic decompensation
• Patient with a known genetic syndrome

Contacts and Locations

Contacts

Contact: POISSON Alice, PH; 00 33 4 37 91 51 63; alice.poisson@ch-le-vinatier.fr

Contact: Demily Caroline, PH; 00 33 4 37 91 51 63; caroline.demily@ch-le-vinatier.fr

Locations

France

CH Le Vinatier; Recruiting

BRON Cedex, Rhône-Alpes, France, 69678

Contact: POISSON ALICE, PH 0437915163 alice.poisson@ch-le-vinatier.fr

Contact: VIAL VERONIQUE 0437915531 veronique.vial@ch-le-vinatier.fr

Sponsors and Collaborators

Hôpital le Vinatier

Hospices Civils de Lyon

Investigators

• Principal Investigator: POISSON Alice, PH; Centre Hospitalier le Vinatier

More Information

• Responsible Party: Hôpital le Vinatier
• ClinicalTrials.gov Identifier: NCT02746510
• Other Study ID Numbers: 2015-A01992-47
• First Posted: April 21, 2016
• Last Update Posted: March 16, 2022
• Last Verified: March 2022

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No

Additional relevant MeSH terms:

Schizophrenia; Schizophrenia Spectrum and Other Psychotic Disorders; Mental Disorders